ClinVar Miner

Submissions for variant NM_000379.4(XDH):c.1509C>G (p.Gly503=)

gnomAD frequency: 0.01566  dbSNP: rs45612839
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000357432 SCV000430052 benign Hereditary xanthinuria type 1 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Invitae RCV001511109 SCV001718297 benign Xanthinuria type II 2024-01-28 criteria provided, single submitter clinical testing
GeneDx RCV001683341 SCV001900484 benign not provided 2021-01-29 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000357432 SCV002513976 benign Hereditary xanthinuria type 1 2021-12-05 criteria provided, single submitter clinical testing

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